| Disease ID | Source | Name | Description |
| 607323 | OMIM | Duane-radial ray syndrome (DRRS) | Disorder characterized by the association of forearm malformations with Duane retraction syndrome. The disease is caused by variants affecting the gene represented in this entry. |
| 147750 | OMIM | Oculootoradial syndrome (OORS) | Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. The disease is caused by variants affecting the gene represented in this entry. |